Disease #05109 (JBTS (Joubert syndrome (JBTS)))

Official abbreviation	JBTS
Name	Joubert syndrome (JBTS)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	655
Phenotype entries for this disease	602
Associated with 9 genes	AHI1, ARL3, ARMC9, B9D1, CEP104, CEP290, MKS1, TCTN2, TMEM67
Associated tissues	-
Disease features	-
Remarks	-
Date created	2016-01-09 00:37:44 +01:00 (CET)
Date last edited	N/A

Individuals

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ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

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Example	Matches
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655 entries on 7 pages. Showing entries 1 - 100.

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Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00017647	-	PubMed: Tuz 2014	-	M	no	United States	African American	-	-	-	-	JBTS, SRTD1	see paper;...	CSPP1	CSPP1	1	1	Marianne Vos (LOVD-team)
00017707	-	PubMed: Tuz 2014	-	?	?	Saudi Arabia	Saudi	-	-	-	-	JBTS	see paper; ...	CSPP1	CSPP1	1	1	Marianne Vos (LOVD-team)
00017792	-	PubMed: Tuz 2014	-	?	?	-	European	-	-	-	-	JBTS, SRTD1	see paper; gastrostomy tube, third-nerve palsy, Ptosis, Retina, nystagmus, oculomotor apraxia, Apnea, Tachypnea,...	CSPP1	CSPP1	2	1	Marianne Vos (LOVD-team)
00017793	-	PubMed: Tuz 2014	-	?	?	-	European	-	-	-	-	JBTS, SRTD1	see paper; ...	CSPP1	CSPP1	2	1	Marianne Vos (LOVD-team)
00017794	-	PubMed: Tuz 2014	-	?	no	Brazil	Brazillian	-	-	-	-	JBTS	see paper; ...	CSPP1	CSPP1	2	1	Marianne Vos (LOVD-team)
00017795	-	PubMed: Tuz 2014	-	?	no	Brazil	Brazillian	-	-	-	-	JBTS	see paper; ...	CSPP1	CSPP1	2	1	Marianne Vos (LOVD-team)
00017796	-	PubMed: Tuz 2014	-	?	?	Turkey	Turkish	-	-	-	-	JBTS	-	CSPP1	CSPP1	1	1	Marianne Vos (LOVD-team)
00017801	-	PubMed: Tuz 2014	-	?	?	China	Chinese	-	-	-	-	JBTS	Hearing Loss, Ptosis, Tachypnea	CSPP1	CSPP1	2	1	Marianne Vos (LOVD-team)
00017802	-	PubMed: Tuz 2014	-	?	?	Turkey	Turkish	-	-	-	-	JBTS	Ptosis, liver fibrosis on biopsy, splenomegaly, elevated transaminases, chronic sinusitis	CSPP1	CSPP1	2	1	Marianne Vos (LOVD-team)
00017803	-	PubMed: Tuz 2014	-	?	?	Turkey	Turkish	-	-	-	-	JBTS	Ptosis, elevated transaminases, chronic sinusitis	CSPP1	CSPP1	2	1	Marianne Vos (LOVD-team)
00017804	-	PubMed: Tuz 2014	-	?	?	Turkey	Turkish	-	-	-	-	JBTS	Apnea or Tachypnea, Ptosis, cleft palate, hypertelorism	CSPP1	CSPP1	1	1	Marianne Vos (LOVD-team)
00017805	-	PubMed: Tuz 2014	-	?	?	-	European	-	-	-	-	JBTS	Tachipnea, Retina, Ptosis, Nystagmus, High-arched palate	CSPP1	CSPP1	2	1	Marianne Vos (LOVD-team)
00017806	-	PubMed: Tuz 2014	2-generation family, 2 affected, unaffected heterozygous carrier parents	?	?	-	European, north	-	-	-	-	JBTS	1x Tachypnea, obese, oculomotor apraxia 16y+9y	CSPP1	CSPP1	2	2	Marianne Vos (LOVD-team)
00017807	-	PubMed: Tuz 2014	2-generation family, 2 affecteds, unaffected heterozygous carrier parents	?	?	India	Indian	-	-	-	-	JBTS	UW143-3 (5y):Tachypnea, Ptosis, hypertelorism, CPEO, mild left optic disc pallor UW143-4 (2y): hypertelorism, restricted upward gaze	CSPP1	CSPP1	2	2	Marianne Vos (LOVD-team)
00017808	-	PubMed: Tuz 2014	-	?	?	Lebanon	Lebanese	-	-	-	-	JBTS	Apnea or Tachypnea, Ptosis, Jeune asphyxiating thoracic dystrophy (short ribs, bell-shaped chest, pulmonary hypoplasia, abnormal iliac notches), nasogastric tube, Hearing Loss, high-arched palate	CSPP1	CSPP1	1	1	Marianne Vos (LOVD-team)
00017809	-	PubMed: Tuz 2014	-	?	?	Brazil	Brazillian	-	-	-	-	JBTS	tachypnea or apnea, ptosis, oculomotor apraxia	CSPP1	CSPP1	2	1	Marianne Vos (LOVD-team)
00017810	-	PubMed: Tuz 2014	-	?	?	India	Indian	-	-	-	-	JBTS	ptosis	CSPP1	CSPP1	1	1	Marianne Vos (LOVD-team)
00017812	-	PubMed: Shaheen 2014	5-generation family, 1 affected, unaffected heterozygous carrier parents	M	yes	Saudi Arabia	Saudi	<00y00m00d	-	-	-	JBTS	stillbirth 26w; hydranencephaly, a single nostril, and bilateral hyperechogenic kidneys, cephalocentesis, occipitofrontal circumference (OFC) of 39 cm; large fontanels and wide cranial sutures, occipital encephalocele, anophthalmia	CSPP1	CSPP1	1	1	Marianne Vos (LOVD-team)
00017813	-	PubMed: Shaheen 2014	-	F	yes	Saudi Arabia	Arab	<00y00m00d	-	-	-	JBTS	stillborn 18; occipital encephalocele, bilateral hyperechogenic kidneys, partially fused eyes	CSPP1	CSPP1	1	1	Marianne Vos (LOVD-team)
00017814	-	PubMed: Shaheen 2014	2-generation family, 1 affected, unaffected heterozygous carrier parents/sib	F	yes	Canada	Hutterite, Schmiedeleut	-	-	-	-	JBTS	global developmental delay, hypotonia, ataxia, strabismus; neuroimaging confirmed presence molar tooth sign, otherwise healthy, history of racheoesophageal fistula (also seen healthy sister)	CSPP1	CSPP1	1	1	Marianne Vos (LOVD-team)
00017815	-	PubMed: Shaheen 2014	2-generation family, 2 affected, unaffected heterozygous carrier parents, sister of 24360803-Fam3PatII2	F	yes	Canada	Schmiedeleut Hutterite	00y00m28d	-	-	-	JBTS	died at 28d; birth respiratory distress, absent inferior cerebellar vermis, dysplastic superior cerebellar vermis, posterior fossa cyst communicating with the fourth ventricle, and a molar tooth sign secondary to thickened horizontal superior cerebellar peduncles and a reduced anteroposterior (AP) dimension of the mesencephalon	CSPP1	CSPP1	1	2	Marianne Vos (LOVD-team)
00017816	-	PubMed: Shaheen 2014	2-generation family, 2 affected sibs, unaffected heterozygous carrier parents	M	yes	Canada	Hutterite, Schmiedeleut	00y00m24d	-	-	-	JBTS	died at 3w, autopsy not performed, no clinical evidence renal malformations or other congenital anomalies; AP dimension of the mesencephalon was smaller than expected. The superior cerebellar peduncles were thick and had a more parallel configuration,giving rise to the molar tooth sign. The cerebellar vermis appeared hypoplastic, the medulla was mildly narrowed, and a mega cisterna magna was also seen	CSPP1	CSPP1	1	1	Marianne Vos (LOVD-team)
00056048	-	PubMed: Watson 2016, Journal: Watson 2016	-	?	-	United Kingdom (Great Britain)	-	-	-	-	-	JBTS	Joubert syndrome	-	AHI1	1	1	Christopher Watson
00056049	-	PubMed: Watson 2016, Journal: Watson 2016	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	JBTS	Joubert syndrome	-	AHI1	1	1	Christopher Watson
00056054	-	PubMed: Watson 2016, Journal: Watson 2016	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	JBTS	Joubert syndrome	-	TCTN2	1	1	Christopher Watson
00056381	IV-10	-	-	M	yes	Pakistan	Pashton	-	-	-	-	JBTS	Joubert syndrome like phenotype	MKS1	MKS1	1	1	Irfan Ullah
00058534	-	-	-	F	yes	China	HAN	-	-	-	-	JBTS	-	TCTN1	TCTN1	1	1	Jiang Wenting
00058535	-	-	-	M	yes	China	Han	-	-	-	-	JBTS	-	TCTN1	TCTN1	1	1	Jiang Wenting
00058830	-	-	-	F	yes	Italy	-	-	-	-	-	JBTS	She presented with a neurological phenotype consisting of hypotonia, developmental delay and cognitive impairment. There was no involvement of other organs such as the retina, kidneys, liver and skeleton. Midly ventriculomegaly	CEP120	CEP120	1	1	Enza Maria Valente
00058831	-	-	-	M	no	United States	-	-	-	-	-	JBTS	He presented with a neurological phenotype consisting of hypotonia, developmental delay and cognitive impairment. Ataxia and neonatal breathing abnormalities were reported in this individual, abnormal ocular movements were observed in this proband. There was no involvement of other organs such as the retina, kidneys, liver and skeleton. CC hypoplasia	CEP120	CEP120	2	1	Enza Maria Valente
00058832	-	-	-	M	yes	Palestine	-	-	-	-	-	JBTS	He presented with a neurological phenotype consisting of hypotonia, developmental delay and cognitive impairment. There was no involvement of other organs such as the retina, kidneys, liver and skeleton.	CEP120	CEP120	1	1	Enza Maria Valente
00058833	-	-	-	F	no	India	-	-	-	-	-	JBTS	She presented with a neurological phenotype consisting of hypotonia, developmental delay and cognitive impairment. Ataxia and neonatal breathing abnormalities were reported in this individual. There was no involvement of other organs such as the retina, kidneys, liver and skeleton. Strabismus is reported.	CEP120	CEP120	2	1	Enza Maria Valente
00058835	-	-	fetus, terminated pregnancy	M	no	Belgium	-	<00y00m00d	-	-	-	JBTS	Fetus (SW-476410) was diagnosed in utero with tecto-cerebellar dysraphia with occipital encephalocele findings in the spectrum of JS, due to the presence of a suboccipital encephalocele, dysplastic tectum, severe hypoplasia of the cerebellar vermis, and the MTS. In addition, post-mortem examination revealed cleft palate, narrow thorax with short ribs and secondary lung hypoplasia, and discrete rhizomelic shortening of limbs. Liver and kidneys were normal, and no polydactyly was observed.	CEP120	CEP120	2	1	Enza Maria Valente
00103638	-	PubMed: Srour 2012	-	F	no	Canada	French Canadian	-	-	-	-	JBTS	Developmental delay; breathing abnormality; molar tooth sign	C5orf42	C5orf42	2	1	Johan den Dunnen
00103639	-	PubMed: Srour 2012	-	M	no	Canada	French Canadian	-	-	-	-	JBTS	Developmental delay; oculomotor apraxia; breathing abnormality; limb abnormality; molar tooth sign, ? syndactyly left hand	C5orf42	C5orf42	2	1	Johan den Dunnen
00103640	-	PubMed: Srour 2012	-	F	no	Canada	French Canadian	-	-	-	-	JBTS	Developmental delay; oculomotor apraxia; breathing abnormality; molar tooth sign	C5orf42	C5orf42	2	1	Johan den Dunnen
00103641	-	PubMed: Srour 2012	-	F	no	Canada	French Canadian	-	-	-	-	JBTS	Developmental delay; oculomotor apraxia; breathing abnormality	C5orf42	C5orf42	2	1	Johan den Dunnen
00103642	-	PubMed: Srour 2012	-	M	no	Canada	French Canadian	-	-	-	-	JBTS	Developmental delay; oculomotor apraxia; breathing abnormality; molar tooth sign	C5orf42	C5orf42	2	1	Johan den Dunnen
00103643	-	PubMed: Srour 2012	-	F	no	Canada	French Canadian	-	-	-	-	JBTS	Developmental delay; oculomotor apraxia; breathing abnormality; limb abnormality; molar tooth sign, preaxial and postaxial polydactyly fo the four limbs	C5orf42	C5orf42	2	1	Johan den Dunnen
00103644	-	PubMed: Srour 2012	-	M	no	Canada	French Canadian	-	-	-	-	JBTS	Developmental delay; oculomotor apraxia; breathing abnormality; molar tooth sign	C5orf42	C5orf42	2	1	Johan den Dunnen
00103645	-	PubMed: Srour 2012	-	M	no	Canada	French Canadian	-	-	-	-	JBTS	Developmental delay; oculomotor apraxia; breathing abnormality; molar tooth sign	C5orf42	C5orf42	2	1	Johan den Dunnen
00103646	-	PubMed: Srour 2012	-	F	no	Canada	French Canadian	-	-	-	-	JBTS	Developmental delay; oculomotor apraxia; molar tooth sign	C5orf42	C5orf42	2	1	Johan den Dunnen
00103647	-	PubMed: Srour 2012	-	F	no	Canada	French Canadian	-	-	-	-	JBTS	Developmental delay; oculomotor apraxia; molar tooth sign	C5orf42	C5orf42	2	1	Johan den Dunnen
00103648	-	-	-	-	yes	Saudi Arabia	-	-	-	-	-	JBTS	-	C5orf42	C5orf42	1	1	Anas M Alazami
00103650	-	-	-	M	-	-	-	-	-	-	-	JBTS	-	C5orf42	C5orf42	2	1	Anita Rauch
00103651	-	-	-	-	-	-	-	-	-	-	-	JBTS	-	C5orf42	C5orf42	2	1	Anita Rauch
00103652	-	-	-	-	-	-	-	-	-	-	-	JBTS	-	C5orf42	C5orf42	2	1	Anita Rauch
00103653	-	-	-	-	-	-	-	-	-	-	-	JBTS	-	C5orf42	C5orf42	2	1	Anita Rauch
00103967	-	-	-	M	yes	Italy	-	-	-	-	-	JBTS	Mild Cerebellar vermal hypoplasia, mild Molar tooth sign; Perisylvian polymicrogyria; Oculomotor apraxia; Congenital bilateral ptosis; Dysmorphic facial features; Postaxial polydactyly of hands and feet; Macrocephaly; Neurodevelopmental delay; Dysarthria; Gait ataxia	SUFU	SUFU	1	1	Enza Maria Valente
00103968	-	-	-	F	yes	Italy	-	-	-	-	-	JBTS	phenotype details: Mild Cerebellar vermal hypoplasia, mild Molar tooth sign; Perisylvian polymicrogyria; Oculomotor apraxia; Congenital bilateral ptosis; Dysmorphic facial features; Postaxial polydactyly of hands and feet; Macrocephaly; Neurodevelopmental delay; Dysarthria; Gait ataxia	SUFU	SUFU	1	1	Enza Maria Valente
00104077	-	-	-	M	yes	Egypt	-	-	-	-	-	JBTS	Mild Molar tooth sign; Oculomotor apraxia; nystagmus; Dysmorphic facial features; right hand Postaxial polydactyly; global macrosomia; Neurodevelopmental delay; Dysarthria; Gait ataxia	SUFU	SUFU	1	1	Enza Maria Valente
00104268	-	-	-	F	yes	Egypt	-	-	-	-	-	JBTS	Mild Molar tooth sign; Oculomotor apraxia; nystagmus; Dysmorphic facial features; Neurodevelopmental delay; Dysarthria; Gait ataxia	SUFU	SUFU	1	1	Enza Maria Valente
00105223	-	-	family, 3 affected individuals	-	yes	Pakistan	Pathan (Pashtoon)	-	-	-	-	JBTS	-	ARL13B	ARL13B	1	3	Rafiullah Rafiullah
00105224	-	-	family, 2 affected individuals	-	yes	Pakistan	Pathan (Pashtoon)	-	-	-	-	JBTS	-	ARL13B	ARL13B	1	2	Rafiullah Rafiullah
00163996	Fam581Pat1299,472	PubMed: Srour 2015	2-generation family, 2 affected bothers, unaffected heterozygous carrier parents	M	no	Canada	French-Canadian	-	-	-	-	JBTS	see paper; ...	C2CD3	C2CD3	2	2	Johan den Dunnen
00179519	JBTS_Fam1_II_5	PubMed: Alkanderi 2018	2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	M	yes	Saudi Arabia	-	>05y	-	-	-	JBTS	developmental delay, ataxia ptosis, rod cone dystrophy, night blindness, bilateral visual pathway involvement; left multicystic dysplastic kidney, right grade I hydronephrosis Single palmar crease, pectus carinatum, normal Auditory Brainstem Response	-	ARL3	1	1	John Sayer
00179520	JBTS_Fam2_II_1	PubMed: Alkanderi 2018	2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives	F	-	Pakistan	-	>21y	-	-	-	JBTS	Developmental delay, ataxia Rod cone dystrophy, night blindness, progressive visual loss Recurrent UTI Renal scarring bilaterally Thermoregulation problems; episode of transverse myelitis	-	ARL3	1	3	John Sayer
00179521	JBTS_Fam2_II_4	PubMed: Alkanderi 2018	sister	F	yes	Pakistan	-	>12y	-	-	-	JBTS	Developmental delay, ataxia Rod cone dystrophy, night blindness, progressive visual loss Normal renal USS Thermoregulation problems; sleep apnoea	-	ARL3	1	1	John Sayer
00179522	JBTS_Fam2_II_5	PubMed: Alkanderi 2018	sister	F	yes	Pakistan	-	>09y	-	-	-	JBTS	Developmental delay, ataxia Rod cone dystrophy, night blindness, progressive visual loss, oculomotor apraxia Recurrent UTI Unequal kidney size	-	ARL3	1	1	John Sayer
00204378	-	-	-	?	-	-	New Zealander	-	-	-	-	JBTS	-	TMEM216	TMEM216	1	1	LOVD
00204379	-	-	-	?	-	-	New Zealander	-	-	-	-	JBTS	-	TMEM216	TMEM216	1	1	LOVD
00204380	-	-	MKS and JSRDs coexisted in the same sibship	M	-	-	Turkish	-	-	-	-	JBTS	-	TMEM216	TMEM216	1	1	LOVD
00204381	-	-	MKS and JSRDs coexisted in the same sibship	M	-	-	Turkish	-	-	-	-	JBTS	-	TMEM216	TMEM216	1	1	LOVD
00204410	-	PubMed: Valente 2003	-	M	-	-	Italian	-	-	-	-	JBTS	-	TMEM216	TMEM216	1	1	LOVD
00204411	-	PubMed: Valente 2003	-	M	-	-	Italian	-	-	-	-	JBTS	-	TMEM216	TMEM216	1	1	LOVD
00204412	-	PubMed: Valente 2003	-	F	-	-	Italian	-	-	-	-	JBTS	-	TMEM216	TMEM216	1	1	LOVD
00204413	-	PubMed: Valente 2003	-	F	-	-	Italian	-	-	-	-	JBTS	-	TMEM216	TMEM216	1	1	LOVD
00204414	-	PubMed: Valente 2003	-	F	-	-	Italian	-	-	-	-	JBTS	-	TMEM216	TMEM216	1	1	LOVD
00204415	-	PubMed: Valente 2003	-	F	-	-	Italian	-	-	-	-	JBTS	-	TMEM216	TMEM216	1	1	LOVD
00204416	-	PubMed: Valente 2003	-	M	-	-	Italian	-	-	-	-	JBTS	-	TMEM216	TMEM216	1	1	LOVD
00204417	-	PubMed: Valente 2003	-	M	-	-	Italian	-	-	-	-	JBTS	-	TMEM216	TMEM216	1	1	LOVD
00204418	-	-	-	F	-	-	Italian	-	-	-	-	JBTS	-	TMEM216	TMEM216	1	1	LOVD
00204419	-	-	-	F	-	-	Italian	-	-	-	-	JBTS	-	TMEM216	TMEM216	1	1	LOVD
00204420	-	-	-	F	-	-	Jewish-Ashkenazi	-	-	-	-	JBTS	-	TMEM216	TMEM216	1	1	LOVD
00204421	-	-	-	F	-	-	Jewish-Ashkenazi	-	-	-	-	JBTS	-	TMEM216	TMEM216	1	1	LOVD
00204422	-	-	Fetus	?	-	-	Jewish-Ashkenazi	-	-	-	-	JBTS	-	TMEM216	TMEM216	1	1	LOVD
00204423	-	-	Fetus	?	-	-	Jewish-Ashkenazi	-	-	-	-	JBTS	-	TMEM216	TMEM216	1	1	LOVD
00204424	-	-	-	M	-	-	Jewish-Ashkenazi	-	-	-	-	JBTS	-	TMEM216	TMEM216	1	1	LOVD
00204425	-	-	-	M	-	-	Jewish-Ashkenazi	-	-	-	-	JBTS	-	TMEM216	TMEM216	1	1	LOVD
00204426	-	-	-	M	-	-	Europe	-	-	-	-	JBTS	-	TMEM216	TMEM216	1	1	LOVD
00204427	-	-	-	M	-	-	Europe	-	-	-	-	JBTS	-	TMEM216	TMEM216	1	1	LOVD
00204428	-	-	-	F	-	-	Europe	-	-	-	-	JBTS	-	TMEM216	TMEM216	1	1	LOVD
00204429	-	-	-	F	-	-	Europe	-	-	-	-	JBTS	-	TMEM216	TMEM216	1	1	LOVD
00204430	-	-	-	M	-	-	Jewish-Ashkenazi	-	-	-	-	JBTS	-	TMEM216	TMEM216	1	1	LOVD
00204431	-	-	-	M	-	-	Jewish-Ashkenazi	-	-	-	-	JBTS	-	TMEM216	TMEM216	1	1	LOVD
00204432	-	-	-	F	-	-	Jewish-Ashkenazi	-	-	-	-	JBTS	-	TMEM216	TMEM216	1	1	LOVD
00204433	-	-	-	F	-	-	Jewish-Ashkenazi	-	-	-	-	JBTS	-	TMEM216	TMEM216	1	1	LOVD
00204434	-	-	-	?	-	-	Jewish-Ashkenazi	-	-	-	-	JBTS	-	TMEM216	TMEM216	1	1	LOVD
00204435	-	-	Fetus	?	-	-	Jewish-Ashkenazi	-	-	-	-	JBTS	-	TMEM216	TMEM216	1	1	LOVD
00204436	-	-	Fetus	F	-	-	Jewish-Ashkenazi	-	-	-	-	JBTS	-	TMEM216	TMEM216	1	1	LOVD
00204437	-	-	-	F	-	-	Jewish-Ashkenazi	-	-	-	-	JBTS	-	TMEM216	TMEM216	1	1	LOVD
00204438	-	-	-	F	-	-	Jewish-Ashkenazi	-	-	-	-	JBTS	-	TMEM216	TMEM216	1	1	LOVD
00204439	-	-	-	F	-	-	Jewish-Ashkenazi	-	-	-	-	JBTS	-	TMEM216	TMEM216	1	1	LOVD
00204440	-	-	-	F	-	-	Jewish-Ashkenazi	-	-	-	-	JBTS	-	TMEM216	TMEM216	1	1	LOVD
00204441	-	-	-	F	-	-	Jewish-Ashkenazi	-	-	-	-	JBTS	-	TMEM216	TMEM216	1	1	LOVD
00204442	-	-	Fetus	?	-	-	Jewish-Ashkenazi	-	-	-	-	JBTS	-	TMEM216	TMEM216	1	2	LOVD
00204443	-	-	Fetus	?	-	-	Jewish-Ashkenazi	-	-	-	-	JBTS	-	TMEM216	TMEM216	1	2	LOVD
00204444	-	-	-	M	-	-	Jewish-Ashkenazi	-	-	-	-	JBTS	-	TMEM216	TMEM216	1	1	LOVD
00204445	-	-	-	M	-	-	Jewish-Ashkenazi	-	-	-	-	JBTS	-	TMEM216	TMEM216	1	1	LOVD
00204446	-	-	cousin	M	-	-	Jewish-Ashkenazi	-	-	-	-	JBTS	-	TMEM216	TMEM216	1	1	LOVD

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Global Variome shared LOVD

CYP2C9 (cytochrome P450, family 2, subfamily C, pol...)